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Journal Articles

A multimorphic variant in ThPOK causes an inborn error of immunity with T cell defects and fibrosis

Maryam Vaseghi-Shanjani, Mehul Sharma, Pariya Yousefi, Simran Samra, Kaitlin U. Laverty, Arttu Jolma, Rozita Razavi, Ally H.W. Yang, Mihai Albu, Liam Golding, Anna F. Lee, Ryan Tan, Phillip A. Richmond, Marita Bosticardo, Jonathan H. Rayment, Connie L. Yang, Kyla J. Hildebrand, Rae Brager, Michelle K. Demos, Yu-Lung Lau, Luigi D. Notarangelo, Timothy R. Hughes, Catherine M. Biggs, Stuart E. Turvey
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (8): e20241174.
https://doi.org/10.1084/jem.20241174
Published: 20 May 2025
View articletitled, A multimorphic variant in ThPOK causes an inborn error of immunity with T cell defects and fibrosis
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Includes: Supplementary data
Journal Articles

Human immunity to fungal infections

In Special Collection:
JEM Clinical Immunology Collection 2025
Donald C. Vinh
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (6): e20241215.
https://doi.org/10.1084/jem.20241215
Published: 15 April 2025
View articletitled, Human immunity to fungal infections
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Journal Articles

Identifying genetic errors of immunity due to mosaicism

In Special Collection:
JEM Clinical Immunology Collection 2025 , Genes and Immunity
Elizabeth G. Schmitz, Malachi Griffith, Obi L. Griffith, Megan A. Cooper
Journal: Journal of Experimental Medicine
Series: Genes and Immunity Focus
J Exp Med (2025) 222 (5): e20241045.
https://doi.org/10.1084/jem.20241045
Published: 15 April 2025
View articletitled, Identifying genetic errors of immunity due to mosaicism
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Journal Articles

Primary disorders of polyubiquitination: Dual roles in autoinflammation and immunodeficiency

András N. Spaan, Bertrand Boisson, Seth L. Masters
Journal: Journal of Experimental Medicine
Series: Genes and Immunity Focus
J Exp Med (2025) 222 (5): e20241047.
https://doi.org/10.1084/jem.20241047
Published: 15 April 2025
View articletitled, Primary disorders of polyubiquitination: Dual roles in autoinflammation and immunodeficiency
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Journal Articles

Suppression of BRCA1 facilitates kidney regeneration

Kaira A. Church, Xunian Zhou, Raghu Kalluri
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (6): e20241814.
https://doi.org/10.1084/jem.20241814
Published: 28 March 2025
View articletitled, Suppression of BRCA1 facilitates kidney regeneration
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Journal Articles

Dominant interfering CARD11 variants disrupt JNK signaling to promote GATA3 expression in T cells

In Special Collection:
Genes and Immunity
Bradly M. Bauman, Jeffrey R. Stinson, Melissa A. Kallarakal, Lei Haley Huang, Andrew M. Frank, Gauthaman Sukumar, Nermina Saucier, Clifton L. Dalgard, Alice Y. Chan, Joshua D. Milner, Megan A. Cooper, Andrew L. Snow
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (6): e20240272.
https://doi.org/10.1084/jem.20240272
Published: 20 March 2025
View articletitled, Dominant interfering CARD11 variants disrupt JNK signaling to promote GATA3 expression in T cells
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Includes: Supplementary data
Journal Articles

Replication stress, microcephalic primordial dwarfism, and compromised immunity in ATRIP deficient patients

In Special Collection:
Genes and Immunity
Evi Duthoo, Elien Beyls, Lynn Backers, Thorkell Gudjónsson, Peiquan Huang, Leander Jonckheere, Sebastian Riemann, Bram Parton, Likun Du, Veronique Debacker, Marieke De Bruyne, Levi Hoste, Ans Baeyens, Anne Vral, Eva Van Braeckel, Jens Staal, Geert Mortier, Tessa Kerre, Qiang Pan-Hammarström, Claus S. Sørensen, Filomeen Haerynck, Kathleen B.M. Claes, Simon J. Tavernier
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (5): e20241432.
https://doi.org/10.1084/jem.20241432
Published: 03 March 2025
View articletitled, Replication stress, microcephalic primordial dwarfism, and compromised immunity in ATRIP deficient patients
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Includes: Supplementary data
Journal Articles

The common HAQ STING allele prevents clinical penetrance of COPA syndrome

In Special Collection:
Genes and Immunity
Noa Simchoni, Shogo Koide, Maryel Likhite, Yoshihiko Kuchitsu, Senkottuvelan Kadirvel, Christopher S. Law, Brett M. Elicker, Santosh Kurra, Margaret Mei-Kay Wong, Bo Yuan, Alice Grossi, Ronald M. Laxer, Stefano Volpi, Dilan Dissanayake, Tomohiko Taguchi, David B. Beck, Tiphanie P. Vogel, Anthony K. Shum
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (4): e20242179.
https://doi.org/10.1084/jem.20242179
Published: 27 February 2025
View articletitled, The common HAQ STING allele prevents clinical penetrance of COPA syndrome
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Includes: Supplementary data
Journal Articles

RBM10 loss promotes metastases by aberrant splicing of cytoskeletal and extracellular matrix mRNAs

Gnana P. Krishnamoorthy, Anthony R. Glover, Brian R. Untch, Nickole Sigcha-Coello, Bin Xu, Dina Vukel, Yi Liu, Vera Tiedje, Jose Mario Bello Pineda, Katherine Berman, Prasanna P. Tamarapu, Adrian Acuña-Ruiz, Mahesh Saqcena, Elisa de Stanchina, Laura Boucai, Ronald A. Ghossein, Jeffrey A. Knauf, Omar Abdel-Wahab, Robert K. Bradley, James A. Fagin
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (5): e20241029.
https://doi.org/10.1084/jem.20241029
Published: 24 February 2025
View articletitled, RBM10 loss promotes metastases by aberrant splicing of cytoskeletal and extracellular matrix mRNAs
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Includes: Supplementary data
Journal Articles

A “second hit” impacts disease severity in a dominantly inherited genetic skin disorder

Pierre A. Coulombe
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (5): e20242377.
https://doi.org/10.1084/jem.20242377
Published: 20 February 2025
View articletitled, A “second hit” impacts disease severity in a dominantly inherited genetic skin disorder
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Journal Articles

HMCN1 variants aggravate epidermolysis bullosa simplex phenotype

Shir Bergson, Ofer Sarig, Moshe Giladi, Janan Mohamad, Mariana Mogezel-Salem, Karina Smorodinsky-Atias, Ofir Sade, Bar Manori, Sari Assaf, Kiril Malovitski, Yarden Feller, Mor Pavlovsky, Stefan Hainzl, Thomas Kocher, Julia I. Hummel, Noy Eretz Kdosha, Lubna Gazi Khair, Roland Zauner, Josefina Pinon Hofbauer, Ruby Shalom-Feuerstein, Verena Wally, Ulrich Koller, Liat Samuelov, Yoni Haitin, Uri Ashery, Rotem Rubinstein, Eli Sprecher
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (5): e20240827.
https://doi.org/10.1084/jem.20240827
Published: 20 February 2025
View articletitled, HMCN1 variants aggravate epidermolysis bullosa simplex phenotype
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Includes: Supplementary data
Journal Articles

The MLL3/GRHL2 complex regulates malignant transformation and anti-tumor immunity in squamous cancer

Chehyun Nam, Guowei Huang, Yueyuan Zheng, Hua Zhao, Yuhao Pan, Boyan Hu, Talia Wenger, Hieu T. Van, Li-Yan Xu, En-Min Li, H. Phillip Koeffler, Kai Ge, Yali Dou, Uttam K. Sinha, Young Min Park, De-Chen Lin
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (4): e20240758.
https://doi.org/10.1084/jem.20240758
Published: 18 February 2025
View articletitled, The MLL3/GRHL2 complex regulates malignant transformation and anti-tumor immunity in squamous cancer
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Includes: Supplementary data
Journal Articles

Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humans

In Special Collection:
Genes and Immunity
Quentin Riller, Boris Sorin, Charline Courteille, Duong Ho-Nhat, Tom Le Voyer, Jean-Christophe Debray, Marie-Claude Stolzenberg, Muriel Schmutz, Olivier Pellé, Thomas Becquard, María Rodrigo Riestra, Laureline Berteloot, Mélanie Migaud, Laure Delage, Marie Jeanpierre, Charlotte Boussard, Camille Brunaud, Aude Magérus, Charles Bretot, Victor Michel, Camille Roux, Capucine Picard, Cécile Masson, Christine Bole-Feysot, Nicolas Cagnard, Aurélien Corneau, Isabelle Meyts, Véronique Baud, Jean-Laurent Casanova, Alain Fischer, Emmanuel Dejardin, Anne Puel, Cécile Boulanger, Bénédicte Neven, Frédéric Rieux-Laucat
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (2): e20240843.
https://doi.org/10.1084/jem.20240843
Published: 15 January 2025
View articletitled, Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humans
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Includes: Supplementary data
Journal Articles

A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity

In Special Collection:
Genes and Immunity
Fahd Al Qureshah, Jérémie Le Pen, Nicole A. de Weerd, Marcela Moncada-Velez, Marie Materna, Daniel C. Lin, Baptiste Milisavljevic, Fernanda Vianna, Lucy Bizien, Lazaro Lorenzo, Marc Lecuit, Jean-David Pommier, Sevgi Keles, Tayfun Ozcelik, Sigifredo Pedraza-Sanchez, Nicolas de Prost, Loubna El Zein, Hassan Hammoud, Lisa F.P. Ng, Rabih Halwani, Narjes Saheb Sharif-Askari, Yu Lung Lau, Anthony R. Tam, Neha Singh, Sagar Bhattad, Yackov Berkun, Wasun Chantratita, Raúl Aguilar-López, Mohammad Shahrooei, COVID-19 HGE Consortium, SEAe Consortium, Laurent Abel, Paul Bastard, Emmanuelle Jouanguy, Vivien Béziat, Peng Zhang, Charles M. Rice, Aurélie Cobat, Shen-Ying Zhang, Paul J. Hertzog, Jean-Laurent Casanova, Qian Zhang
Journal: Journal of Experimental Medicine
J Exp Med (2024) 222 (2): e20241413.
https://doi.org/10.1084/jem.20241413
Published: 16 December 2024
View articletitled, A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity
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Includes: Supplementary data
Journal Articles

Antiviral immunity lassoed down by excess RNA

Erika Valeri, Anna Kajaste-Rudnitski
Journal: Journal of Experimental Medicine
J Exp Med (2024) 222 (1): e20241743.
https://doi.org/10.1084/jem.20241743
Published: 06 December 2024
View articletitled, Antiviral immunity lassoed down by excess RNA
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Journal Articles

Genetic and environmental risks for clonal hematopoiesis and cancer

In Special Collection:
JEM Cancer Collection 2025 , Immunology Update Winter 2025
Stephanie Franco, Lucy A. Godley
Journal: Journal of Experimental Medicine
Series: Cancer Focus
J Exp Med (2024) 222 (1): e20230931.
https://doi.org/10.1084/jem.20230931
Published: 03 December 2024
View articletitled, Genetic and environmental risks for clonal hematopoiesis and cancer
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Journal Articles

Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C)

In Special Collection:
Genes and Immunity
Evangelos Bellos, Dilys Santillo, Pierre Vantourout, Heather R. Jackson, Amedine Duret, Henry Hearn, Yoann Seeleuthner, Estelle Talouarn, Stephanie Hodeib, Harsita Patel, Oliver Powell, Sophya Yeoh, Sobia Mustafa, Dominic Habgood-Coote, Samuel Nichols, Leire Estramiana Elorrieta, Giselle D’Souza, Victoria J. Wright, Diego Estrada-Rivadeneyra, Adriana H. Tremoulet, Kirsten B. Dummer, Stejara A. Netea, Antonio Condino-Neto, Yu Lung Lau, Esmeralda Núñez Cuadros, Julie Toubiana, Marisol Holanda Pena, Frédéric Rieux-Laucat, Charles-Edouard Luyt, Filomeen Haerynck, Jean Louis Mège, Samya Chakravorty, Elie Haddad, Marie-Paule Morin, Özge Metin Akcan, Sevgi Keles, Melike Emiroglu, Gulsum Alkan, Sadiye Kübra Tüter Öz, Sefika Elmas Bozdemir, Guillaume Morelle, Alla Volokha, Yasemin Kendir-Demirkol, Betul Sözeri, Taner Coskuner, Aysun Yahsi, Belgin Gulhan, Saliha Kanik-Yuksek, Gulsum Iclal Bayhan, Aslinur Ozkaya-Parlakay, Osman Yesilbas, Nevin Hatipoglu, Tayfun Ozcelik, Alexandre Belot, Emilie Chopin, Vincent Barlogis, Esra Sevketoglu, Emin Menentoglu, Zeynep Gokce Gayretli Aydin, Marketa Bloomfield, Suzan A. AlKhater, Cyril Cyrus, Yuriy Stepanovskiy, Anastasiia Bondarenko, Fatma Nur Öz, Meltem Polat, Jiří Fremuth, Jan Lebl, Amyrath Geraldo, Emmanuelle Jouanguy, COVID-19 Human Genetic Effort, DIAMONDS, EUCLIDS, Michael J. Carter, Paul Wellman, Mark Peters, Rebeca Pérez de Diego, Lindsey Ann Edwards, Christopher Chiu, Mahdad Noursadeghi, Alexandre Bolze, Chisato Shimizu, Myrsini Kaforou, Melissa Shea Hamilton, Jethro A. Herberg, Erica G. Schmitt, Agusti Rodriguez-Palmero, Aurora Pujol, Jihoon Kim, Aurélie Cobat, Laurent Abel, Shen-Ying Zhang, Jean-Laurent Casanova, Taco W. Kuijpers, Jane C. Burns, Michael Levin, Adrian C. Hayday, Vanessa Sancho-Shimizu
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (12): e920240699.
https://doi.org/10.1084/jem.20240699
Published: 22 November 2024
View articletitled, Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C)
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Includes: Supplementary data
Journal Articles

Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiency

In Special Collection:
Genes and Immunity , Tissue Microenvironment and Immune Memory
Elena Blanco, Carme Camps, Sameer Bahal, Mohit D. Kerai, Matteo P. Ferla, Adam M. Rochussen, Adam E. Handel, Zainab M. Golwala, Helena Spiridou Goncalves, Susanne Kricke, Fabian Klein, Fang Zhang, Federica Zinghirino, Grace Evans, Thomas M. Keane, Sabrina Lizot, Maaike A.A. Kusters, Mildred A. Iro, Sanjay V. Patel, Emma C. Morris, Siobhan O. Burns, Ruth Radcliffe, Pradeep Vasudevan, Arthur Price, Olivia Gillham, Gabriel E. Valdebenito, Grant S. Stewart, Austen Worth, Stuart P. Adams, Michael Duchen, Isabelle André, David J. Adams, Giorgia Santili, Kimberly C. Gilmour, Georg A. Holländer, E. Graham Davies, Jenny C. Taylor, Gillian M. Griffiths, Adrian J. Thrasher, Fatima Dhalla, Alexandra Y. Kreins
Journal: Journal of Experimental Medicine
J Exp Med (2024) 222 (1): e20220979.
https://doi.org/10.1084/jem.20220979
Published: 19 November 2024
View articletitled, Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiency
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Includes: Supplementary data
Journal Articles

Human ITGAV variants are associated with immune dysregulation, brain abnormalities, and colitis

In Special Collection:
JEM Clinical Immunology Collection 2025
Sina Ghasempour, Neil Warner, Rei Guan, Marco M. Rodari, Danton Ivanochko, Ryder Whittaker Hawkins, Ashish Marwaha, Jan K. Nowak, Yijing Liang, Daniel J. Mulder, Lorraine Stallard, Michael Li, Daniel D. Yu, Fred G. Pluthero, Vritika Batura, Mo Zhao, Iram Siddiqui, Julia E.M. Upton, Jessie M. Hulst, Walter H.A. Kahr, Roberto Mendoza-Londono, Fabienne Charbit-Henrion, Lies H. Hoefsloot, Anis Khiat, Diana Moreira, Eunice Trindade, Maria do Céu Espinheira, Isabel Pinto Pais, Marjolein J.A. Weerts, Hannie Douben, Daniel Kotlarz, Scott B. Snapper, Christoph Klein, James J. Dowling, Jean-Philippe Julien, Marieke Joosten, Nadine Cerf-Bensussan, Spencer A. Freeman, Marianna Parlato, Tjakko J. van Ham, Aleixo M. Muise
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (12): e20240546.
https://doi.org/10.1084/jem.20240546
Published: 11 November 2024
View articletitled, Human ITGAV variants are associated with immune dysregulation, brain abnormalities, and colitis
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Includes: Supplementary data
Journal Articles

Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases

Jérémie Rosain, Tom Le Voyer, Xian Liu, Adrian Gervais, Laura Polivka, Axel Cederholm, Laureline Berteloot, Audrey V. Parent, Alessandra Pescatore, Ezia Spinosa, Snezana Minic, Ana Elisa Kiszewski, Miyuki Tsumura, Chloé Thibault, Maria Esnaola Azcoiti, Jelena Martinovic, Quentin Philippot, Taushif Khan, Astrid Marchal, Bénédicte Charmeteau-De Muylder, Lucy Bizien, Caroline Deswarte, Lillia Hadjem, Marie-Odile Fauvarque, Karim Dorgham, Daniel Eriksson, Emilia Liana Falcone, Mathilde Puel, Sinem Ünal, Amyrath Geraldo, Corentin Le Floc’h, Hailun Li, Sylvie Rheault, Christine Muti, Claire Bobrie-Moyrand, Anne Welfringer-Morin, Ramsay L. Fuleihan, Romain Lévy, Marie Roelens, Liwei Gao, Marie Materna, Silvia Pellegrini, Lorenzo Piemonti, Emilie Catherinot, Jean-Christophe Goffard, Arnaud Fekkar, Aissata Sacko-Sow, Camille Soudée, Soraya Boucherit, Anna-Lena Neehus, Cristina Has, Stefanie Hübner, Géraldine Blanchard-Rohner, Blanca Amador-Borrero, Takanori Utsumi, Maki Taniguchi, Hiroo Tani, Kazushi Izawa, Takahiro Yasumi, Sotaro Kanai, Mélanie Migaud, Mélodie Aubart, Nathalie Lambert, Guy Gorochov, Capucine Picard, Claire Soudais, Anne-Sophie L’Honneur, Flore Rozenberg, Joshua D. Milner, Shen-Ying Zhang, Pierre Vabres, Dusan Trpinac, Nico Marr, Nathalie Boddaert, Isabelle Desguerre, Manolis Pasparakis, Corey N. Miller, Cláudia S. Poziomczyk, Laurent Abel, Satoshi Okada, Emmanuelle Jouanguy, Rémi Cheynier, Qian Zhang, Aurélie Cobat, Vivien Béziat, Bertrand Boisson, Julie Steffann, Francesca Fusco, Matilde Valeria Ursini, Smail Hadj-Rabia, Christine Bodemer, Jacinta Bustamante, Hervé Luche, Anne Puel, Gilles Courtois, Paul Bastard, Nils Landegren, Mark S. Anderson, Jean-Laurent Casanova
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (11): e20231152.
https://doi.org/10.1084/jem.20231152
Published: 01 October 2024
View articletitled, Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases
Open the PDF for Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases in another window
Includes: Supplementary data